Синдром вродженої аплазії шкіри - кишкової лімфангіектазії
ORPHA:1116· ICD-10 Q84.8· Aplasia cutis congenita-intestinal lymphangiectasia syndrome
Визначення(English summary)
An extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterized by aplasia cutis congenita of the vertex and generalized edema (as well as hypoproteinemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Neonatal